The U.S. Food and Drug Administration (FDA) granted Fast Track designation for PD-0325901, an investigational, oral, small molecule inhibitor of MEK1 and MEK2, for the treatment of patients 2 years of age or older with neurofibromatosis type 1-associated inoperable plexiform neurofibromas that are progressing or causing significant morbidity.
Vanessa Vogel-Farley, Executive Director of the Dup15q Alliance, discusses research in this rare disease, including the ARCADE trial, a phase 2 open-label pilot study.
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome.
Daniel de Boer, Founder and CEO of ProQR, discussuses Usher syndrome, a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa.
Michael E. Shy, MD, Director, Division of Neuromuscular Medicine, Neurology at the University of Iowa Health Care, discusses Natural History, Biomarkers, and Gene Identification during the Rare Disease Day at NIH 2019 on Thursday, February 28, 2019.
Erica B. Esrick, MD, Hematologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center reported on her pilot trial in which one adult patient with Sickle Cell disease (SCD) received an infusion of his own stem cells in which a genetic “switch” was flipped on to induce the cells to both start producing healthy hemoglobin and stop producing unhealthy “sickle” hemoglobin.